Molecular characteristics

The CHD8 gene is located on 14th chromosome. CHD8 mutations are observed as both de novo and inherited events. Research suggests that loss of CHD8 function disrupts the expression of genes regulated by CHD8, and that this gene regulation is involved in gene co-expression networks in the fetal and developing brain.

Research of individuals with CHD8 disruptions suggest higher prevalence of ASD, macrocephaly, and gastrointestinal issues. Additionally, sleep problems, cognitive impairment and facial dysmorphology were reported in research studies (Bernier 2014).